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Congenital and infantile nephrotic syndrome

INTRODUCTION

The term congenital nephrotic syndrome refers to disease, which is present at birth or within the three first months of life. Later onset, between three months and one year of age, is called infantile nephrotic syndrome. Most of these children have a genetic basis for the renal disease and a poor outcome. The precise diagnosis of the glomerular lesion is based on clinical, laboratory and histological criteria.

The causes of congenital and infantile nephrotic syndrome will be discussed here.

ETIOLOGY

In a review of 89 Central Eurpean and Turkish children (from 80 families) who presented with nephrotic syndrome in the first year of life, two-thirds overall and as many as 85 percent of cases that occurred during the first three months of life could be explained by mutations in the following four genes [1]

  • NPHS1, which encodes nephrin (a key component of the podocyte slit diaphragm) and is responsible for the Finnish-type congenital nephrotic syndrome. (See 'CNS of Finnish type' below.)

  • NPHS2, which encodes podocin (a protein that interacts with nephrin at the slit diaphragm) and is responsible for familial focal glomerulosclerosis. (See 'CNS and NPHS2 mutations' below.)
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